In conclusion, there are several "take home" points to consider for assessing the possible importance of genetic testing in patients with severe hypercholesterolemia:
- First, the prevalence of functionally important LDL receptor mutations may be substantially higher than
previously estimated; although not shown in this presentation, future data will hopefully clarify and
support the truth of this statement;
- Second, a subset of patients with severe hypercholesterolemia may have mutations in both the
LDL receptor alleles, even though those patients may not appear in the clinical setting to have
classic homozygous FH;
- Third, genetic testing of patients with a diagnosis of severe hypercholesterolemia may permit
personalized approaches to therapy with the next generation of LDL-lowering therapies;
- Finally, cascade screening of family members using genotyping of mutations discovered in
probands will facilitate identification and effective treatment of FH.
